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Hwcheng hwcheng at PUB.ONLINE.JN.SD.CN
Sat Feb 7 20:29:34 EST 1998



     A Homozygous boy of Familial Hypercholesterolemia Needs Help 

     The proband is now a 7-year-old boy.  Xanthoma was found in theŠ buttock when the boy was born. Then more xanthomas were found in bothŠ elbows, cervicale posterior, inner canthus, joints of fingers andŠ toeses.There is also arcus corneae.The lipids investigation: totalŠ cholesterol 19.2 mmol/L, triglyceride 1.2 mmol/L, HDL-C 0.8 mmol/L,Š LDL-C 17.6 mmol/L.Auscultatory and ultrasonic examination foundŠ stenosis in the root of aorta. All the medicine which we could findŠ,failed to reduce his cholesterol in blood. Some days ago, he was sentŠ many times to hospital with severe angina pectoris. 

     I have finished the lineage analysis, which shows the character ofŠ autosome dominance inheritance.  I have had the proband's fibroblastŠ and lymphocyte cultured and the LDL-R analysis is going to be done soonŠ in my lab. I also have the DNA samples of the boy and his parents.IŠ wish I could find the gene mutation and do the gene therapy for theŠ boy to save his life.

     I have not got the any grant for gene sequencing up to now, so itŠ is impossible for me to find the gene mutation soon. I wish the boyŠ would  accept the gene therapy after the DNA sequency. What I can doŠ now is only for help with internet.
  
   Hu Weicheng, MD 
   Professor 
   Department of Pathphysiology
   Shandong Medical University
   Jinan, Shandong, 250012
   P.R.CHINA
   Tel. (0531)2952044(O)
        (0531)2957422(H)
   Fax. (0531)2953813
   E-mail hwcheng at pub.online.jn.sd.cn
    




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